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CDKL5 variants: Improving our understanding of a rare neurologic disorder

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.

Functional abilities in children and adults with the CDKL5 disorder

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.

Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...

Tips for talking to your teenager about drinking before Leavers Week

As thousands of West Australian school leavers pack their bags for a week of celebration to mark the end of their school journey this weekend, it can be an anxious time for parents.

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

Airway narrowing assessed by anatomical optical coherence tomography in vitro: dynamic airway wall morphology and function

Previous histological and imaging studies have shown the presence of variability in the degree of bronchoconstriction of airways sampled at different locations.

Conditionally reprogrammed primary airway epithelial cells maintain morphology, lineage and disease specific functional characteristics

Conditionally reprogrammed primary airway epithelial cells maintain morphology, lineage and disease specific functional characteristics The study of

Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort study

This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.

Australia needs a prioritised national research strategy for clinical trials in a pandemic: lessons learned from COVID-19

The emergence of the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), sparking a global pandemic, has driven an imperative to quickly design and conduct treatment studies. We strongly propose a national, coordinated approach for randomised controlled trials (RCTs) for coronavirus disease 2019 (COVID-19), future pandemics and inter-pandemic periods in Australia.